Genopathy
Gene-Disorder Association · Article
Gene
TSC2
TSC Complex Subunit 2
Disorder
Tuberous Sclerosis
First reported 1994
Supporting publications 139
Key publication · gene–disorder The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.Human molecular genetics · 1994
Key publication · disorder Tuberous sclerosis, a neurocutaneous syndrome; report of a case.Radiology · 1950
Manually curated
Association Review

In brief

The association between TSC2 (TSC Complex Subunit 2) and Tuberous Sclerosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 2,385
Symptoms 10
Compounds 0
Trials 0
Publications 139
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
TSC2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Tuberous Sclerosis

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

2,385 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

139 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

12 references

Every source and publication cited across this dossier, as one numbered reference list.

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